A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2002935



Internal ID7674046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29396131..29396260hg38UCSC Ensembl
Outerchr6:29395936..29396467hg38UCSC Ensembl
Innerchr6:29363908..29364037hg19UCSC Ensembl
Outerchr6:29363713..29364244hg19UCSC Ensembl
Innerchr6:29471887..29472016hg18UCSC Ensembl
Outerchr6:29471692..29472223hg18UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38532
hg19532
hg18532
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4827840
SamplesNA18507
Known Genes
MethodSequencing
AnalysisHierarchical clustering of anomalous readpairs was used to identify groupings of five or more readpairs that had a similar size and position. Read pairs were defined as anomalous if they had high-confidence alignments of each individual read that nevertheless were either incorrectly oriented or implied an insert size of at least 3 standard deviations outside the sample median.
PlatformNot specified
Comments
ReferenceBentley_et_al_2008
Pubmed ID18987734
Accession Number(s)esv2002935
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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